Surpassing feeding and breathing hurdles in a child with centronuclear myopathy: A NICU case study

Abstract

Background: Centronuclear Myopathy (CNM) is a rare congenital neuromuscular disorder characterized by severe hypotonia, impaired oro-motor control, and respiratory compromise in neonates. Infants with CNM frequently require prolonged neonatal intensive care and experience significant feeding difficulties and caregiver stress.Objective: To describe the role of early occupational therapy intervention in improving feeding readiness, respiratory stability, neuromotor regulation, and caregiver well-being in a preterm infant diagnosed with CNM.Methods: A single-case study was conducted in a Level III Neonatal Intensive Care Unit in Mumbai. A preterm female infant with CNM was assessed using the Infant Positioning Assessment Tool (IPAT), Preterm Oral Feeding Readiness Assessment Scale (POFRAS), Infant Neurological International Battery (INFANIB), and the Perinatal Anxiety Screening Scale (PASS). Interventions included therapeutic positioning, oro-motor and pharyngeal stimulation, graded sensory modulation using the ladder approach, Kangaroo Mother Care (KMC), and caregiver education within a multidisciplinary framework.Results: Post-intervention outcomes demonstrated marked improvements. IPAT scores improved from 3/12 to 11/12, POFRAS from 15/36 to 28/36, INFANIB from abnormal (48/100) to transient (61/100), and PASS scores reduced from severe (53) to moderate (45). The infant demonstrated improved alertness, feeding efficiency, reduced oral secretion pooling, and maintained oxygen saturation without CPAP support.Conclusion: Early, structured, family-centered occupational therapy intervention can significantly improve functional outcomes and caregiver confidence in infants with Centronuclear Myopathy, even in the presence of a guarded medical prognosis.